Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation

• Main Authors: Veronica Arora (Author), Sunita Bijarnia-Mahay (Author), Samarth Kulshreshtra (Author), Kanika Singh (Author), Ratna Dua Puri (Author), Ishwar Chandar Verma (Author)
• Format: Book
• Published: University of São Paulo, 2019-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Walker Warburg syndrome (WWS) lies at the severe end of the spectrum of the congenital muscular dystrophies. WWS is a congenital disorder of the O-glycosylation that disrupts in the post-translation modification of dystroglycan proteins. WWS is characterized by the involvement of the central nervous...